Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls - Wikidata - wikimedia - TriplyDB

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

http://www.wikidata.org/entity/Q24300678

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Congenital heart disease: emerging themes linking genetics and development Of mice and men: molecular genetics of congenital heart disease What Is New in Genetics of Congenital Heart Defects?Recent advances in understanding the genetics of congenital heart defects.Complex genetics and the etiology of human congenital heart disease.The importance of copy number variation in congenital heart disease Replication of the 4p16 susceptibility locus in congenital heart disease in Han Chinese populations.Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways Mutations in cardiovascular connexin genes.Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield Tetralogy of Fallot and Hypoplastic Left Heart Syndrome - Complex Clinical Phenotypes Meet Complex Genetic Networks Variants in the Regulatory Region of WNT5A Reduced Risk of Cardiac Conotruncal Malformations in the Chinese Population.1q21.1 microduplication in a patient with mental impairment and congenital heart defect.Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese.Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure.Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.PITX2c loss-of-function mutations responsible for congenital atrial septal defects.Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.1q21.1 Microduplication expression in adults.Prevalence and spectrum of PITX2c mutations associated with congenital heart disease.The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease Application of array-comparative genomic hybridization in tetralogy of Fallot.Effect of copy number variants on outcomes for infants with single ventricle heart defects.Role of connexins in human congenital heart disease: the chicken and egg problem.Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.Advances in molecular genetics for pulmonary atresia.Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.Phenotypic Variability Associated with a Large Recurrent 1q21.1 Microduplication in a Three-Generation Family A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.Rare copy number variants in patients with congenital conotruncal heart defects.Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing 1q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number

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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

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2012 nî lūn-bûn

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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2012 թվականի ապրիլին հրատարակված գիտական հոդված

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2012年の論文

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Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

dbSNP: the NCBI database of genetic variation

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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10.1093/HMG/DDR589

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7

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21

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Shoumo Bhattacharya

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atrial septum development

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